newly diagnosed
08/12/08
If you or your child/relative or friend has just been diagnosed with Ebstein’s you may feel bewildered, anxious and probably know very little about this condition. Please use this section of the forum to ask for help and support from others who are a little further down the road (but who can still remember what it feels like to stand where you are now).
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I remember the day that Florrie was diagnosed, it felt like a bad dream. A heart murmur had been heard at the asthma clinic (she was just over 2 years old)so an echo was done and we were told the name of the condition, but not very much about it. For five years I have avoided gaining any knowledge until the last few months when I realised that there was a need to raise awareness and get funding for some much-needed research.
I have to say that gaining a better understanding of it and reading papers about the new ‘cone’ technique has made me feel an awful lot better. I am no longer a passive patient turning up to clinic once a year with dread, viewing my child as having a ticking ‘time bomb’ waiting to go off. I feel that I am in a much better position now to ask questions and to make choices for Florrie if/when that time comes. Florrie is now 7 and still doing well, no intervention has been necessary yet, although echos do show she has considerable enlargement in one side of her heart. Other than that she is a normal healthy happy child, who does trampolining, dancing and all the other things her friends do. However, she is never going to win any prizes for the cross country running!
Take heart all those of you in this forum. But even better, take some action and join us to get more research and understanding about this condition. Believe that together we can make a difference.
Caroline
Comment by caroline — December 11, 2008 @ 10:50 pm
Your comment about cross country runs really clicked with me.
I wrote the following in an article for the BMJ in 2007 about my life with Ebstein’s.
“The first indication I had that something was wrong was when I went to my prep school and found I was quite unable to keep up on cross country runs. Paradoxically I excelled at soccer and won the school hurdles. This inconsistency did not concern anyone until in my early teens I had a day long attack of paroxysmal tachycardia ….”
I am now 71 and have had no surgery, so I think you and Florrie can be somewhat reassured by my experience.
Charles
Comment by Charles Briscoe — February 11, 2009 @ 6:27 pm
I was diagnosed with Ebstein’s yesterday (11.May.2009)aged 53 years. I must be one of the lucky ones with a very mild form. My blood pressure was high and ECG ‘unusual’ so I was sent for an Echocardiogram which identified my Ebstiens (nothing to do with my blood pressure, which is now under control with medication)
I have been trying to find information on if this is hereditary, as my daughter is about to have her first child (my first grand child) but this is not very clear, and whether I am supposed to advise my insurance company of this diagnosis – any info on these two issues would be appreciated!
I’m still getting my head around this news so will be back on this site soon for more information (great resource by the way!)
Michael
Comment by Michael Baker — May 12, 2009 @ 4:59 pm
Hi Michael
What a shock for you, but as you say you must have a mild form. I am very glad you managed to find this site, there are a few other people who have posted on this site in a similar position, perhaps they will be a good resource for you.
There is much to be done regarding the causes of Ebsteins. There is no established hereditary links yet, although for example my brother has wolf parkinson white syndrome, and another mum of Ebstein’s child has an uncle with something too so it seems coincidental. One of the aims of this site is to fund research into finding out more about this condition as it is difficult to attract medical funding because there are too few people who have this (brutal but true).
Your daughter could ask for an echo, and also to have the baby scanned. I had my twins scanned at 22 weeks as their sister has Ebsteins, and all fine. Yes, there are insurance implications, if you look on heartline a congenital heart website, there is I think a whole category around insurance and who is good to approach (some people don’t charge too much or any more apparently).
Hope this helps, and hope you aren’t feeling too bad.
Caroline
Comment by caroline — May 13, 2009 @ 9:24 am
My son who is 17 was diagnosed in mid-May this year with severe Ebstein’s and gross enlargement of his right heart. It was quite a shock for all of us as he was a healthy baby who thrived, and has never had a major illness. Although not a great athlete, he played a season of footy-aussie rules-last year and was regularly walking 4km home from high school with no difficulty. He has been asymptomatic, except for one experience of a “thud” in his chest earlier this year. The diagnosis was made by chance. We were at the doctors about something minor when something prompted me to ask about heart conditions. The GP listened to his heart and picked up a murmur and it was all systems go after that with medical appointments and echo and tranoesophageal echo. The team of doctors reviewed the findings and open heart surgery was advised. With each medical appointment we became a little more alarmed, and my son himself was asking questions about statistics in relation to risk. The surgeon provided a balanced but serious view. Whilst confident about his technical ability, he wanted us to realise that it was unknown how our son’s heart would respond to the new arrangements. In particular, given the severity of the displacement of the valve and the enlargement, it was not clear if the ventricle would be strong enough to cope. We had to be prepared for the possibility of further procedures, eg hemi-fontan ie right to left shunt to act like a release valve if the pressure was too great in the atrium, or ECMO (extra corporeal membranous oxygenation) if necessary as a prelude to heart transplant. Other issues emerged for us as parents specifically recognising that in a way we no longer had full control- our son being 17 could sign his own consent, and he began expressing that if it came to a transplant he would not want it. Being a parent of a teenager brings its own issues re choice and consent!
My son’s surgery occurred on the 7th July with great success and he came home on the 17th July. The expertise of the medical team has been amazing and their care of us and our son- heart warming. There were three surgeons present, our surgeon and two assistant surgeons, one with expertise in pediatric cardiac surgery and congenital heart defects. It was a very long procedure, the surgeon almost gave up on a repair but was eventually able in his words to “sculpt a valve” with minimal leakage, using some tissue from the pericardium. The heart was also “plicated”- I think this means it was sutured in a number of ways to deal with the enlargement, and small hole or PFO in my son’s heart was enlarged to act as a shunt. ICU and nursing in the cardiac ward was excellent which helped settle us. My son’s recovery was steady and he was very soon going for short walks with us carrying his external pacemaker. He remained in complete heart block until Day 8. A permanent pacemaker looked necessary but then the ECG an hour before his procedure indicated his heart had sufficient conduction! Apparently it can reestablish once inflammation has gone down.
This has been a steep learning curve for us, and although it is not over, we are hopeful, as are the doctors that my son’s heart will now even improve over time, and that he will have many many years of normal living ahead.
I think what got us through as parents was having confidence in the medical and hospital team, and having the chance to ask questions and talk things through more than once prior to the surgery.
Hope this is helpful information. We are in Melbourne Australia.
Carmel
Comment by Carmel Scanlan — July 23, 2009 @ 5:14 am
I love your story Carmel, I wrote my story under unborn babies! I know what you mean about finding strength, ANd the doctors and nurses, I swear they work Miracles!!! TO hear your story brings me strength, So thank you for sharing it!! And best of Luck to your son
Comment by Jessie Hughes — August 30, 2009 @ 8:39 pm
His name Is Tyler Ryan Hughes,
It started off when I thought I was only getting another ultrasound to see if he was going to be a big baby like his older brother, there is when they had noticed something, I was sent off to the hospital right away, they scheduled me with a specialist, that was the hardest, longest day of my life, We were told that day he will NOT make it if we dont do surgery. I was told his valves are misplaced. 3 days later I had went for a stress test, and I guess what they saw made them take him that day, May 28th 2009 at 1:08 pm. By c-section, I didnt even get to see him, there was about 4-5 doctors surronding him trying to put a breathing tube in him, they sent him off to intensive care where about an hour or 2 later they finally brought him to me. He was absoutely beautiful. I cried my eyes out knowing a couple hours later he will be taken, and so a couple hours later they rushed him off to A.I Dupont childrens hospital, where a team was waiting for him. I had to wait 3 days in the hospital, longest 3 days of my life. I attached the picture of him (where you see the tubes and all the wires) thats what he looked like the first time I got to see him at Dupont, I literally hit the ground. All I kept thinking was why, Hes so innocent. they were explaining to me he has ebstein anomaly. Where they are going to preform 3 major sugeries, and that is called the Norwood procdure. They will put a shunt in and close off the right side of his heart. On june 3rd, 2009 that surgery happend, it took 2 hours long. The first 24 hours was going to prove if he was going to make it or not. Then later on he required another surgery because he had build up fluid and needed a window to drain it. He was in the cicu for over a month, I didnt get to hold him untill the very last week he was in there. He was then moved to 2b, the room I was staying in. He has had many echos, many xrays, many IV sticks, many scary moments, when they had to put the breathing tube back in him. 2 and half months later, we were told we can go home, and I cant express the feelings I had that day, but yet very scared. This little guy only being 2 and half months old and has been putting up the biggest fight, I know his battle is not over. In november he will going for his second major surgery, then around his first birthday his 3rd. I wanted to share my story and put it out there, because you are not alone. I knew nothing about esbstein anomaly, and it was hard for me to find someone that has had it. My email is address is jessie_devault -at- yahoo.com I am here for anyone!! I want everyone to know, our children are strong, they have the will to go on!! And we stand by them 100%!!
Comment by Jessie Hughes — November 6, 2009 @ 9:33 pm
My sister’s unborn baby was diagnosed (about an hour ago) with this defect. She is 37 weeks pregnant and we just found out. The doctors say is severe and the babay will need surgery. I am devastated, we all are. I can’t stop crying and thinking about what kind of life he will have if he survives at all. It feels like our whole world is crashing down on us. I have read the other comments and it makes me feel better that all the babys have made it. Thank you for this website
Comment by Gabriela Clemons — August 26, 2010 @ 11:42 pm
Hi Gabriela
I am glad our site was of use. Please let us know how your sister gets along.
Caroline
Comment by caroline — September 6, 2010 @ 6:11 pm